Newbie - Positive anti DS-DNA and high titre ANA

[j7b7r6]

Dear all - I just wondered if anyone has a similar story to mine or any experience with the symptoms. I'm 7 years in now but as yet no diagnosis. I'm a 49 year old male and auto immune disease is rampant in my family although I'm not aware of ay lupus sufferers.

In brief my last two rounds of blood tests have returned a positive anti ds-dna result, for 6-7 years the ANA has always been high, up to 1:2560 and speckled or homogenous. The lab tests say "SLE specific" and "commonly found in SLE".

My early symptoms were more peripheral neuropathy based and after a year of being told I was anxious and perfectly healthy I finally got referred to a rheumy (high + ANA) who sent me to a neurologist who ordered every test and scan possible but came up only with idiopathic small fibre neuropathy of possible inflammatory or auto-immune basis. Many test results mentioned inflammation. I gave up seeking help at that point as various consultants frankly didn't seem interested and certainly could help with pain.

I moved away to a new area and went to a new GP as in addition to longer and more intense periods of foot pain and burning I was getting more and more issues with -

Brain fog/concentration/word finding/memory issues and tiredness/fatigue.

Slurred speech, stuttering and vocal weakness and fatigue

Rash and skin problems - round scaly red patches that merge into a large area on my chest especially and I can also feel on my scalp

Beu's lines to all toenails - these have increased a lot in the last year, every toe has multiple ridges.

Weakness and early fatigue of most muscles combined with them being stiff as a board. Massage is painful these days due to the rigidity.

What I don't have is many major issues with joints and I feel this is the cause of much scepticism from neurologists and GPs regarding Lupus. My knees are starting to niggle me and I have bouts of intensive mechanical pain in one foot but all only of late.

Thanks to the current GP I have finally been referred to the rheumatology dept at the QE in Birmingham but expect many months waiting time, I'm both delighted but in equal parts dreading another "we don't know" scenario. I clearly have a systemic illness as I'm affected head to toe, not sure how much more obvious it has to be!

Thanks all for any advice/comments.

[KayHimm]

That is so hard to be having such terrible symptoms and not know what the cause is. I will take a stab at why this is so confusing. Neuropathy definitely can be caused by autoimmune disease but it can occur on its own, so that may be the dilemma in terms of diagnosis. The rheumatologist will fit it all together — the rashes, the auto-antibodies — and make a diagnosis. One big issue is that is that if it is autoimmune-related, there may be treatment. I have autonomic neuropathy from autoimmune disease and was diagnosed with UCTD without arthritis. Really hope they get to the bottom of this. There are lots of people here with various forms of neuropathy who will help you. K

[j7b7r6 in reply to KayHimm]

Thank you for the reply, I have some autonomic neuropathy as well (haywire/excessive sweating) but that's a minor thing really. I do feel like I'm close to some bigger picture diagnosis beyond idiopathic neuropathy, the longer and more the problems continue the more evidence seems to pop up. I was never satisfied with leaving things as simply idiopathic but it takes the help of a good GP to show interest to push for an answer.

I hadn't heard of UCTD 'til I came here so I've learned something there, I wouldn't be all surprised to be fitted into that category - positive bloods, possibly questionable physical symptoms for a classical diagnosis.

[KayHimm in reply to j7b7r6]

Please keep us posted. Yes, it does sound like you are getting closer to a diagnosis. So sorry for you to have had to suffer this long. Good luck with your appointment. K

[whisperit]

Hello j,

Welcome to the forum. Although most of us are female, there's a sprinking of men here too. I was diagnosed with UCTD about 3 years ago and have found it to be by far the most useful resource for negotiating my way through the incredibly complex world of systemic autoimmunity.

From what I gather, men tend to present slightly differently to women, with a bit more lung problems (I started off with interstitial lung disease).But virtually everyone finds it takes a long time to get a clear diagnosis, and most of us seem to have met with scepticism and denial from some clinicians. A high ANA and clear positive dsDNA *should* make things a bit easier for your clinicians and if you want the detail, here are the Royal College's guidance on diagnosis and treatment academic.oup.com/rheumatolo...

You might want to keep in mind that you may be able to jump a long NHS queue by seeing the consultant you've been referred to privately. Once diagnosed, they may then put you onto their NHS caseload - this is what I had to do after learning that my wait was likely to be at least a year. Anyway, hope you get sorted soon - and please do keep in touch x

[j7b7r6 in reply to whisperit]

Thank you for the welcome, I've found the forum very informative already, especially reading up about UCTD.

I'm used to scepticism, when my problems started 7 years ago I was forced by my GP to undergo cognitive behavioural therapy before being considered for a referral, more of an ultimatum than a choice. It took the therapist phoning the surgery to confirm that they were wasting her time because clearly I wasn't an anxiety case. I can still hear the grudging tone of the GP "oh I suppose at least we have something to refer you over" (very high ANA titer) after my unneeded counselling.

I went to book my rheumy appointment today to find there were no appointments available so the wait begins. My private health care ended with the small fibre neuropathy dx as it's a chronic condition with no further coverage but still a massive hike in premiums. I'll investigate a private consultation depending on the eventual wait time but having seen what my neurologists charge for a short chat that's kind of scary

[KayHimm in reply to whisperit]

Very interesting, Whisperit, that men tend to present differently. I once read that it is because the immune system is so complicated and people genetically different that autoimmune diseases present in such a multitude of ways. What you say makes a lot of sense in this context. K

[j7b7r6 in reply to KayHimm]

Every new consultation has always begun or included the family history part and I can't understand why it's been summarily dismissed.

My mother - ravaged by RA from her early 30's, more android than human now after multiple replacement joints. My sister - hip replacement at 48 years old, operation postponed a year because they couldn't get her psoriasis under control, the surgeon was shocked and said she resembled a burns victim. My teenage nephews/nieces already have joint and other auto-immune issues and the list goes on through both sides of the family.

I spent lot of time in Thailand where they have a strange saying - "same same but different". Seems apt for me

[whisperit in reply to KayHimm]

Yes, the consensus seems to be that the differences aren't very marked, but since we are significantly outnumbered by women, it seems highly likely that there would be differences. One suggestion I've read is that your having a double helping of X chromosomes may be important eg if susceptiblility genes are carried on the X chromosome, it may be an advantage if you have only the one; conversely, if you are male and still develop SLE, it may be that you have an unusually heavy load of vulnerabilities. In either case, it wouldn't be suprising if the disease manifests slighly differently x

[j7b7r6 in reply to whisperit]

Complete frustration today after an 8-month follow up with a neurologist. I went armed with the knowledge that I had a +ive ANA and +anti-DSDNA for the second time and was told "all your blood tests are completely normal". I asked if he was completely sure about that as I had already seen a copy which seemed to somewhat embarrass him and triggered a proper (for the first time?) read through.

I then had some mumbling about lots of people have these blood test results but sensing my scepticism he is referring me to a rheumatologist or at least taking advice from. He then pretty much shut up shop when I told him about the increasing skin rash issues, vocal problems and Beu's lines across all my toes suggesting I see the GP and apologising for being no help.

I left there feeling like a problem patient, not a positive experience at all.

[whisperit in reply to j7b7r6]

sorry to hear that. Sadly, this is not an uncommon story. It is unnerving how many clinicians (including consultants) have precious little understanding of lupus and related conditions. As you know, rheumatology is traditionally the usual lead specialty for this; let's hope they have a bit of a sense of urgency after you've been messed around like this.

[j7b7r6 in reply to whisperit]

Thank you.....I think 7 years of dealing with neurologists is taking it's toll - I understand they have a specialist area of interest by definition but the refusal or lack of ability to consider a wider issue is frustrating. It's like "we don't know (or cant admit so) so surely no-one else will". He set out 8 months ago to investigate a possible auto-immune cause, didn't even read the results properly then admitted he wasn't the best person to make a judgement on SLE but nonetheless deemed having a positive high titer ANA and positive anti-DSDNA "normal and commonplace in lots of people".

Rant over, cup of tea and calm down then I think is needed.

I guess I'm lucky my GP shared the blood test results last month and I already have a referral to the Birmingham QE rheumatology clinic . They had no bookable appointments online or via the NHS booking telephone number but I was told if they hadn't called me in 2 weeks I can call them direct and that day is tomorrow. On that basis a long wait seems assured but at least I'm being sent to someone with special interest in systemic illness and lupus and a speciality.